| Primary Identifier | MGI:1889844 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 58911 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables formylglycine-generating oxidase activity and identical protein binding activity. Involved in post-translational protein modification. Located in endoplasmic reticulum. Is active in endoplasmic reticulum lumen. Is expressed in several structures, including brain; brown fat; eye; genitourinary system; and gut. Used to study mucosulfatidosis. Human ortholog(s) of this gene implicated in mucosulfatidosis. Orthologous to human SUMF1 (sulfatase modifying factor 1). PHENOTYPE: Homozygotes lacking all sulfatase activities exhibit frequent early postnatal lethality and growth retardation, skeletal anomalies, neurological defects, and massive GAG accumulation and cell vacuolization in all tissues in association with systemic inflammation, apoptosis, and neurodegeneration. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
